Germ line predisposition for myeloid neoplasia in adults

Myeloid neoplasms with germ line predisposition (hMN) are likely underdiagnosed and are estimated to constitute a substantial fraction of patients with myelodysplastic syndrome and acute myeloid leukaemia. Correct diagnosis of hMN is vital, as it can influence treatment decisions, facilitate genetic counselling and help identify family members at risk. In this review, we describe the symptoms associated with hMN and present an example of the underlying molecular mechanism. Furthermore, we summarise the current knowledge and recommendations for diagnosis, surveillance and treatment of hMN.